Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy. [PDF]
Qi L, Fang C, Hu Z.
europepmc +1 more source
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza +4 more
wiley +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Recurrent hyperammonemic encephalopathy in a breast cancer patient receiving capecitabine therapy: a case report and literature review. [PDF]
Mu Y, Li Q, Kong J, Zhao Y.
europepmc +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B. [PDF]
Kawamura Y +11 more
europepmc +1 more source
Absence seizures: Update on signaling mechanisms and networks
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source
Tocilizumab as a key therapeutic option in high-risk pediatric acute necrotizing encephalopathy. [PDF]
Kim JS.
europepmc +1 more source
Posterior reversible encephalopathy syndrome presenting with atypical findings: case study
Rakhi Gaur +2 more
openalex +2 more sources

